T616C-F4

**Figure 1\. Pedigree diagram for family T616C\-F4\.**

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 616 | m.616T\>C | T616C\-F4 | The Netherlands | Gitelman\-Like Syndrome | 2 | 7 | 2022 | [34607911](https://pubmed.ncbi.nlm.nih.gov/34607911/) |  |

The **m.616T\>C** variant in MT\-TF was reported in family T616C\-F4 from The Netherlands with gitelman\-like syndrome. The pedigree record reported 2 unaffected and 7 affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in 0/10 listed carriers; 8/10 carriers were affected, and the main clinical manifestation among affected carriers was ckd, tubulopathy.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-I2 | Uninf | F | N | Y | D | / | 98% | ND | ND | ND | CKD |  |
| 2 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-II2 | Fam | F | N | Y | A | / | 98% | ND | ND | ND | CKD |  |
| 3 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-II3 | Fam | M | N | Y | A | 27 | 98% | ND | ND | ND | CKD, Tubulopathy |  |
| 4 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-II4 | Fam | M | N | Y | A | / | 98% | ND | ND | ND | CKD |  |
| 5 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-II5 | Fam | F | N | N | D | / | 98% | ND | ND | ND | / |  |
| 6 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-II7 | Fam | F | N | Y | A | / | 98% | ND | ND | ND | CKD |  |
| 7 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-II8 | Fam | F | N | N | D | / | 98% | ND | ND | ND | / |  |
| 8 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-III1 | Fam | M | N | Y | A | / | 98% | ND | ND | ND | CKD |  |
| 9 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-III2 | Fam | M | N | Y | A | 21 | 98% | ND | ND | ND | CKD, Tubulopathy |  |
| 10 | 616 | m.616T\>C | T616C\-F4 | T616C\-F4\-III3 | Fam | M | Y | Y | A | / | 98% | ND | ND | ND | CKD |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).